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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:CALM1-RALA (FusionGDB2 ID:HG801TG5898) |
Fusion Gene Summary for CALM1-RALA |
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Fusion gene information | Fusion gene name: CALM1-RALA | Fusion gene ID: hg801tg5898 | Hgene | Tgene | Gene symbol | CALM1 | RALA | Gene ID | 801 | 5898 |
Gene name | calmodulin 1 | RAS like proto-oncogene A | |
Synonyms | CALML2|CAM2|CAM3|CAMB|CAMC|CAMI|CAMIII|CPVT4|DD132|LQT14|PHKD|caM | RAL | |
Cytomap | ('CALM1')('RALA') 14q32.11 | 7p14.1 | |
Type of gene | protein-coding | protein-coding | |
Description | calmodulin-1Calmodulin-2Calmodulin-3calmodulin 1 (phosphorylase kinase, delta)phosphorylase kinase subunit deltaphosphorylase kinase, delta subunitprepro-calmodulin 1 | ras-related protein Ral-ARALA Ras like proto-oncogene ARAS-like protein ARas family small GTP binding protein RALAras related GTP binding protein Av-ral simian leukemia viral oncogene homolog A (ras related) | |
Modification date | 20200329 | 20200327 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000356978, ENST00000447653, ENST00000544280, ENST00000553542, ENST00000555132, | ||
Fusion gene scores | * DoF score | 13 X 13 X 3=507 | 9 X 9 X 4=324 |
# samples | 15 | 10 | |
** MAII score | log2(15/507*10)=-1.75702324650746 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(10/324*10)=-1.6959938131099 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CALM1 [Title/Abstract] AND RALA [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CALM1(90870820)-RALA(39745749), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CALM1-RALA seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. CALM1-RALA seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CALM1 | GO:0010880 | regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum | 20226167 |
Hgene | CALM1 | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 8631777 |
Hgene | CALM1 | GO:0035307 | positive regulation of protein dephosphorylation | 8631777 |
Hgene | CALM1 | GO:0051343 | positive regulation of cyclic-nucleotide phosphodiesterase activity | 8631777 |
Hgene | CALM1 | GO:0051592 | response to calcium ion | 7607248 |
Hgene | CALM1 | GO:0060314 | regulation of ryanodine-sensitive calcium-release channel activity | 22067155 |
Hgene | CALM1 | GO:0060315 | negative regulation of ryanodine-sensitive calcium-release channel activity | 26164367 |
Hgene | CALM1 | GO:0060316 | positive regulation of ryanodine-sensitive calcium-release channel activity | 20226167 |
Tgene | RALA | GO:0017157 | regulation of exocytosis | 20005108 |
Tgene | RALA | GO:0031532 | actin cytoskeleton reorganization | 10051605 |
Tgene | RALA | GO:0051491 | positive regulation of filopodium assembly | 10051605 |
Tgene | RALA | GO:0051665 | membrane raft localization | 20005108 |
![]() * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for CALM1-RALA |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for CALM1-RALA |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CALM1-RALA |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:90870820/:39745749) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | . |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. |
![]() * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for CALM1-RALA |
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Fusion Gene PPI Analysis for CALM1-RALA |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CALM1-RALA |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for CALM1-RALA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CALM1 | C4015671 | LONG QT SYNDROME 14 | 7 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
Hgene | CALM1 | C3554047 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 | 6 | GENOMICS_ENGLAND;UNIPROT |
Hgene | CALM1 | C0035828 | Romano-Ward Syndrome | 2 | ORPHANET |
Hgene | CALM1 | C1631597 | VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | CALM1 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Hgene | CALM1 | C0006868 | Cannabis Abuse | 1 | CTD_human |
Hgene | CALM1 | C0006870 | Cannabis Dependence | 1 | CTD_human |
Hgene | CALM1 | C0009171 | Cocaine Abuse | 1 | CTD_human |
Hgene | CALM1 | C0011265 | Presenile dementia | 1 | CTD_human |
Hgene | CALM1 | C0018614 | Hashish Abuse | 1 | CTD_human |
Hgene | CALM1 | C0024809 | Marijuana Abuse | 1 | CTD_human |
Hgene | CALM1 | C0031391 | Phencyclidine Abuse | 1 | CTD_human |
Hgene | CALM1 | C0043094 | Weight Gain | 1 | CTD_human |
Hgene | CALM1 | C0236735 | Cannabis-Related Disorder | 1 | CTD_human |
Hgene | CALM1 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Hgene | CALM1 | C0236742 | Phencyclidine-Related Disorders | 1 | CTD_human |
Hgene | CALM1 | C0276496 | Familial Alzheimer Disease (FAD) | 1 | CTD_human |
Hgene | CALM1 | C0494463 | Alzheimer Disease, Late Onset | 1 | CTD_human |
Hgene | CALM1 | C0546126 | Acute Confusional Senile Dementia | 1 | CTD_human |
Hgene | CALM1 | C0600427 | Cocaine Dependence | 1 | CTD_human |
Hgene | CALM1 | C0750900 | Alzheimer's Disease, Focal Onset | 1 | CTD_human |
Hgene | CALM1 | C0750901 | Alzheimer Disease, Early Onset | 1 | CTD_human |
Tgene | C0036572 | Seizures | 1 | GENOMICS_ENGLAND | |
Tgene | C0557874 | Global developmental delay | 1 | GENOMICS_ENGLAND | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND | |
Tgene | C4022810 | Abnormality of nervous system morphology | 1 | GENOMICS_ENGLAND |